Health Services Research

CIHR Emerging Team in Genomics in Screening

Health systems, everywhere and always, face the challenge of how to judge which new technologies are effective, which are worthwhile, and how to integrate them in an equitable and efficient way. The publication of the first full draft of the human genome marked the new age of ‘personalized medicine’. Basic science is producing new knowledge about biological mechanisms, pathways, and networks at a rapid rate. Our goal in health services research is to evaluate which new tests and therapies are valid, and which might promote improvements in personal health decision making, and in overall population health. We also work to clarify what it will take to promote a Canadian version of a ‘genomics ready’ health system.

Emerging Team activities:

Undertaking primary and secondary research on the validity and utility of genomic markers (including family history) in disease risk prediction, screening, diagnosis, and health promotion

Undertaking primary and secondary research on factors which will influence the health care system’s ability to implement and integrate knowledge-based genomics and personalized medicine interventions

Research activities

Family history in risk assessment and health promotion
As the most widely-used version of a ‘genomic test’, taking a family history has long formed part of standard medical care. FH reflects the confluence of genetic susceptibilities, and shared environments and behaviours. While taking a family history is a core skill for all physicians, the NIH State-of-the-Science Consensus Panel identified a long list of research questions which need to be addressed in developing an adequate evidence base for this activity in primary care.
We have a number of projects which examine family history from the perspective of clinical validity, clinical utility, and implementation in health care.

Newborn screening
Newborn screening aims to detect rare life or health-threatening disorders in order to facilitate early treatment and better health outcomes for the babies, and/or to provide parents with important information for their future family planning. Technical developments have vastly increased our ability to screen for metabolic disorders. As well as a good evidence base to decide which disorders should be included in screening panels, health care systems need to know how best to support parents in their decision-making, and how to navigate the complex ethical issues which newborn screening presents.

Public and professional engagement
Policy-making around personalized health care requires consideration of ethical, legal and social issues, and stakeholder perspectives. Controversies surrounding genetically modified crops in Europe and the marketing of nutrigenomics-based dietary advice in the UK illustrate what can happen when there is a disconnect between technological innovation and social acceptance. Public engagement recognizes the ‘social and political implications’ embedded within any health technology. we argue that engaging the relevant ‘publics’ at an early stage not only informs existing health technology assessment processes, but can also provide useful input into the way a technology itself is shaped and implemented in practice.
We are conducting public and health professional engagement exercises with a number of groups, to explore how people react to the uses, format, and implications of new tests, and identify the factors which will be important in their development and implementation in practice.